A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594728



Internal ID6982048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236714593..236715206hg38UCSC Ensembl
Innerchr2:236714593..236715206hg38UCSC Ensembl
Outerchr2:236714285..236715511hg38UCSC Ensembl
chr2:237623236..237623849hg19UCSC Ensembl
Innerchr2:237623236..237623849hg19UCSC Ensembl
Outerchr2:237622928..237624154hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10885223, essv10885222, essv10885224
SamplesHG00448, HG00368, HG00371
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594728
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer